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Amelia of the arms and femur/fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple.
Am J Med Genet. 1995 Jan 30; 55(3):265-8.AJ

Abstract

A male infant was born with symmetrical tetramelic limb deficiency consisting of bilateral upper limb amelia with severe symmetrical proximal focal femoral deficiency and fibula deficiency associated with left splenogonodal fusion of the discontinuous type, micrognathia, and a prominent capillary haemangioma of the face. The parents are first cousin Lebanese muslims. This observation suggests the possibility of recessive inheritance in some cases of the Amelia, Femur-Fibula dysostosis syndrome with or without splenogonadal fusion.

Authors+Show Affiliations

Limb Deficiency Clinic, Children's Hospital, Camperdown, NSW, Sydney, Australia.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7726220

Citation

Lipson, A H.. "Amelia of the Arms and Femur/fibula Deficiency With Splenogonadal Fusion in a Child Born to a Consanguineous Couple." American Journal of Medical Genetics, vol. 55, no. 3, 1995, pp. 265-8.
Lipson AH. Amelia of the arms and femur/fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple. Am J Med Genet. 1995;55(3):265-8.
Lipson, A. H. (1995). Amelia of the arms and femur/fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple. American Journal of Medical Genetics, 55(3), 265-8.
Lipson AH. Amelia of the Arms and Femur/fibula Deficiency With Splenogonadal Fusion in a Child Born to a Consanguineous Couple. Am J Med Genet. 1995 Jan 30;55(3):265-8. PubMed PMID: 7726220.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Amelia of the arms and femur/fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple. A1 - Lipson,A H, PY - 1995/1/30/pubmed PY - 1995/1/30/medline PY - 1995/1/30/entrez SP - 265 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 55 IS - 3 N2 - A male infant was born with symmetrical tetramelic limb deficiency consisting of bilateral upper limb amelia with severe symmetrical proximal focal femoral deficiency and fibula deficiency associated with left splenogonodal fusion of the discontinuous type, micrognathia, and a prominent capillary haemangioma of the face. The parents are first cousin Lebanese muslims. This observation suggests the possibility of recessive inheritance in some cases of the Amelia, Femur-Fibula dysostosis syndrome with or without splenogonadal fusion. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7726220/Amelia_of_the_arms_and_femur/fibula_deficiency_with_splenogonadal_fusion_in_a_child_born_to_a_consanguineous_couple_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=55&issue=3&spage=265 DB - PRIME DP - Unbound Medicine ER -